A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17692



Internal ID15492091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50001973..50010338hg38UCSC Ensembl
Outerchr10:50001746..50010357hg38UCSC Ensembl
Innerchr10:51761733..51770098hg19UCSC Ensembl
Outerchr10:51761506..51770117hg19UCSC Ensembl
Innerchr10:51431739..51440104hg18UCSC Ensembl
Outerchr10:51431512..51440123hg18UCSC Ensembl
Innerchr10:51431739..51440104hg17UCSC Ensembl
Outerchr10:51431512..51440123hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg388612
hg198612
hg188612
hg178612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8655
Supporting Variants
SamplesNA18942
Known GenesAGAP6
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nssv17692
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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